Mathew Shanley

This morning, Pfizer announced that its investigational therapy for the treatment of patients with transthyretin (TTR) cardiomyopathy, tafamidis, received Breakthrough Therapy designation from the US FDA.

Until her death in April, Tannehill served as the Associate Professor of Education at Robert Morris University in Pittsburgh, PA. This story is about her journey to her AL Amyloidosis diagnosis.

Survey results from the IPA/Erasmus MC Pompe survey investigated whether ERT can reduce Pompe disease patients’ risk of needing either a wheelchair, respirator, or both.

Supported by positive data from an ongoing Phase 2/3 study, bluebird bio’s Lenti-D has been granted Breakthrough Therapy designation by the US FDA for the treatment of patients with cerebral adrenoleukodystrophy.

New data presented yesterday at the American Thoracic Society’s 2018 annual conference suggest that treatment with nintedanib (Ofev) is associated with a reduced risk of death in patients with idiopathic pulmonary fibrosis.

The U.S. FDA has completed their Priority Review and granted full approval to avatrombopag (Doptelet) for the treatment of thrombocytopenia in adult patients with chronic liver disease who are scheduled to undergo a procedure.

Burosumab (Crysvita) was approved by the US FDA to treat adults and children ages 1 year and older with x-linked hypophosphatemia (XLH), a rare genetic variation of rickets. Phase 3 study results help explain why.

New data shows that an increase in the burden of AF is independently associated with a higher risk of ischemic stroke and arterial thromboembolism in patients who have not received anticoagulant medication.

Agilis Biotherapeutics, Inc. has announced that the company's gene therapy for AADC deficiency results in de novo dopamine production and supports durable Improvement in major motor milestones.

New data being presented at ASGCT detail patients (1.67 to 8.42 years of age) enrolled in a study evaluating the investigational gene therapy treatment, AGIL-AADC.

Soleno announced this morning that its multi-center Phase 3 clinical trial of Diazoxide Choline Controlled-Release (DCCR) tablets for the treatment of Prader-Willi Syndrome has been initiated. The potential therapy is first being evaluated at the Seattle Children’s Hospital.

Late Friday afternoon, Novartis announced that the U.S. FDA approved fingolimod (Gilenya) to treat relapsing multiple sclerosis (MS) in children and adolescents age 10 years and older.

Columbia University researchers believe CRISPR technology could also restore retinal function in the degenerative disease retinitis pigmentosa.

Results from a study recently published in The Lancet Neurology describe in detail a 16-year follow up of patients with hemophilia A who were treated with frequency-escalated prophylaxis.

Today, the Endocrinologic and Metabolic Drugs Advisory Committee (EMDAC) voted 12-8 in favor of approval of volanesorsen (Waylivra) for the treatment of familial chylomicronemia syndrome (FCS).

Findings from a study uncovered genetic subtypes of DLBCL with distinct genotypic, epigenetic, and clinical characteristics, providing a potential nosology for precision-medicine strategies in diffuse large B-cell lymphomas.

Last night, SELLAS Life Sciences Group, Inc. announced that the U.S. FDA has granted orphan drug designation to galinpepimut-S (GPS) for the treatment of multiple myeloma.

Cellectar Biosciences has announced that the U.S. FDA granted orphan drug designation to CLR 131 for the treatment of rhabdomyosarcoma, a rare pediatric cancer.

New data revealed by the Tufts Center for the Study of Drug Development concludes that orphan drug development takes 18% longer than the average time required for other new drugs.

Biohaven Pharmaceutical has established an expanded access program (EAP) with sublingual BHV-0223 for patients with amyotrophic lateral sclerosis (ALS).

Alnylam Pharmaceuticals has achieved delivery of novel small interfering RNA (siRNA) conjugates to the central nervous system and intends to advance a pipeline of investigational RNAi therapeutics into clinical development.

The FDA has approved daratumumab (Darzalex) in combination with bortezomib (Velcade), melphalan, and prednisone (VMP) for the treatment of patients with newly diagnosed multiple myeloma who are ineligible for autologous stem cell transplant (ASCT).

Results from the pivotal QuANTUM-R phase 3 study of single agent quizartinib significantly prolongs overall survival compared to chemotherapy in patients with relapsed/refractory AML with FLT3-ITD mutations.

A human clinical trial grant totaling $750,000 was awarded this morning by the Muscular Dystrophy Association (MDA) to Massachusetts General Hospital, with the hope that it will accelerate biomarker research for amyotrophic lateral sclerosis (ALS).

This morning, it was announced that Invitae Corporation and Sarepta Therapeutics will be expanding its partnership to continue assisting clinicians in identifying patients with Duchenne muscular dystrophy (DMD).

The U.S. FDA has granted Fast Track designation to PaxVax for development of its vaccine for prevention of the chkungunya virus.

Rare Disease Report sat down with Brian Wamhoff, PhD, Head of Innovation at HemoShear Therapeutics, to discuss what the company is doing throughout the rare disease community and why it could have such an incredible impact in the near future.

According to new researche, a widely-used cholesterol-lowering drug increased a precursor of high-density lipoprotein (HDL) in models that mimicked liver cells of patients with Friedrich’s ataxia (FA).

The U.S. FDA has approved coagulation factor Xa (recombinant), inactivated-zhzo (Andexxa) for patients treated with rivaoxaban and apixaban, when reversal of anticoagulation is necessary due to fatal or uncontrolled bleeding.

Dosing of the first patient in the Phase 2 clinical trial of AG10 in patients with ATTR cardiomyopathy, Eidos Therapeutics, Inc. has announced.